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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
- Published in:
- Human Genetics, 2024, v. 143, n. 11, p. 1379, doi. 10.1007/s00439-024-02706-w
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- Publication type:
- Article
Clinical geneticists' views on and experiences with unsolicited findings in next‐generation sequencing: "A great technology creating new dilemmas".
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- Journal of Genetic Counseling, 2023, v. 32, n. 2, p. 387, doi. 10.1002/jgc4.1647
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- Publication type:
- Article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6419, doi. 10.3390/ijms22126419
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- Article
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants.
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- Human Genetics, 2022, v. 141, n. 11, p. 1723, doi. 10.1007/s00439-022-02441-0
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- Publication type:
- Article
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1481
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- Publication type:
- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
- Published in:
- Genome Medicine, 2022, v. 14, p. 1, doi. 10.1186/s13073-022-01069-z
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- Publication type:
- Article
Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01069-z
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- Publication type:
- Article
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 627, doi. 10.1002/ajmg.a.36309
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- Publication type:
- Article
Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 553, doi. 10.1002/ajmg.a.35202
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- Publication type:
- Article
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 455, doi. 10.1002/ajmg.a.34428
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- Publication type:
- Article
A newborn with overlapping features of AEC and EEC syndromes.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3100, doi. 10.1002/ajmg.a.34328
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- Publication type:
- Article
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
- Published in:
- Nature Genetics, 2014, v. 46, n. 4, p. 380, doi. 10.1038/ng.2899
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- Publication type:
- Article
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation.
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- Nature Genetics, 2002, v. 30, n. 4, p. 436, doi. 10.1038/ng857
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- Publication type:
- Article
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
- Published in:
- Human Genetics, 2019, v. 138, n. 1, p. 61, doi. 10.1007/s00439-018-1965-1
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- Publication type:
- Article
Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00334-9
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- Publication type:
- Article
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-12435-8
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- Publication type:
- Article
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 803, doi. 10.1038/ejhg.2014.173
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- Publication type:
- Article
Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome.
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- European Journal of Human Genetics, 2015, v. 23, n. 3, p. 317, doi. 10.1038/ejhg.2014.115
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- Publication type:
- Article
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 480, doi. 10.1038/ejhg.2013.169
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- Article
Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 936, doi. 10.1038/ejhg.2012.285
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- Publication type:
- Article
Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 263, doi. 10.1038/ejhg.2011.189
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- Article
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.
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- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 870, doi. 10.1038/ejhg.2011.37
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- Publication type:
- Article
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
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- 2009
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- Publication type:
- Correction Notice
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 444, doi. 10.1038/ejhg.2008.208
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- Publication type:
- Article
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
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- European Journal of Human Genetics, 2004, v. 12, n. 1, p. 24, doi. 10.1038/sj.ejhg.5201080
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- Publication type:
- Article
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
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- Epilepsia (Series 4), 2019, v. 60, n. 1, p. 155, doi. 10.1111/epi.14618
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- Publication type:
- Article
A mother and son with Noonan syndrome resulting from a PTPN1 1 mutation: first report of molecularly proven cases from Turkey.
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- Turkish Journal of Pediatrics, 2010, v. 52, n. 3, p. 321
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- Publication type:
- Article
Antimongoloid as a pejorative term.
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- 2014
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- Publication type:
- Letter to the Editor
A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study.
- Published in:
- 2013
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- Publication type:
- Case Study
Trends in genetic diagnostics of hereditary hearing loss.
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- 2016
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- Publication type:
- Abstract
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00485-5
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- Publication type:
- Article
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.
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- Genes, Chromosomes & Cancer, 2010, v. 49, n. 7, p. 635, doi. 10.1002/gcc.20773
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- Publication type:
- Article
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations.
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- American Journal of Hematology, 2014, v. 89, n. 3, p. 315, doi. 10.1002/ajh.23616
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- Publication type:
- Article
Genome sequencing identifies major causes of severe intellectual disability.
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- Nature, 2014, v. 511, n. 7509, p. 344, doi. 10.1038/nature13394
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- Article
Clinical Phenotype of 5 Females With a CDKL5 Mutation.
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- 2012
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- Publication type:
- Case Study
Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.
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- Prenatal Diagnosis, 2024, v. 44, n. 11, p. 1304, doi. 10.1002/pd.6595
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- Article
Clinical exome sequencing—Mistakes and caveats.
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- Human Mutation, 2022, v. 43, n. 8, p. 1041, doi. 10.1002/humu.24360
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- Publication type:
- Article
A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases.
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- Human Mutation, 2013, v. 34, n. 12, p. 1721, doi. 10.1002/humu.22450
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- Publication type:
- Article
Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics.
- Published in:
- Human Mutation, 2013, v. 34, n. 10, p. 1322, doi. 10.1002/humu.22370
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- Publication type:
- Article
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome.
- Published in:
- Human Mutation, 2011, v. 32, n. 7, p. 853, doi. 10.1002/humu.21523
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- Publication type:
- Article
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
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- Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
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- Publication type:
- Article
Reply to: Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects.
- Published in:
- NPJ Genomic Medicine, 2024, v. 9, n. 1, p. 1, doi. 10.1038/s41525-024-00409-9
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- Publication type:
- Article
Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/949507
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- Publication type:
- Article
MECP2 is highly mutated in X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941
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- Publication type:
- Article
MECP2 is highly mutated in X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941
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- Publication type:
- Article
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 457, doi. 10.3390/genes14020457
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- Publication type:
- Article
Cardiac evaluation in children with Prader-Willi syndrome.
- Published in:
- Acta Paediatrica, 2012, v. 101, n. 5, p. e225, doi. 10.1111/j.1651-2227.2011.02570.x
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- Publication type:
- Article
Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0386-9
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- Publication type:
- Article